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Published on: April 14, 2017
Pathogenesis of holoprosencephaly.
1Department of Genetics and Tumor Cell Biology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA.
Holoprosencephaly (HPE) is a common forebrain malformation with diverse causes. Mouse models have illuminated molecular factors and variable pathology, guiding future research into unanswered questions about HPE.
Area of Science:
- Developmental biology
- Genetics
- Medical research
Background:
- Holoprosencephaly (HPE) is the most frequent human forebrain malformation, affecting 1 in 250 fetuses.
- HPE presents with etiological heterogeneity and variable pathology.
- Existing mouse models have been instrumental in understanding HPE.
Purpose of the Study:
- To summarize current knowledge on genetic alterations causing HPE.
- To discuss unresolved questions regarding HPE etiology and pathology.
- To highlight the contribution of mouse models to HPE research.
Main Methods:
- Review of existing literature on Holoprosencephaly.
- Analysis of genetic alterations identified in HPE.
- Examination of data from established mouse models of HPE.
Main Results:
- Mouse models have revealed molecular causes for various HPE forms.
- These models have elucidated mechanisms behind HPE's variable pathology.
- Significant progress has been made in understanding HPE genetics.
Conclusions:
- Genetic factors play a crucial role in Holoprosencephaly development.
- Mouse models are valuable tools for studying HPE.
- Further research is needed to address remaining questions about HPE.
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